检索
AI 对话
analysis
趋势分析
编组
开放平台
more
更多
排名必读论文期刊顶会热点AI 简史溯源树小脉星探人才迁徙塔尖人才国防情报追踪开源工具智慧手语
VIPCreated with Sketch.

Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants.

Alexandre Guilhem,Sophie Dupuis-Girod,Olivier Espitia,Sophie Rivière,Julie Seguier,Mallorie Kerjouan,Christian Lavigne,Hélène Maillard,Pascal Magro,Laurent Alric,Dan Lipsker,Antoine Parrot,Vanessa Leguy,Claire Vanlemmens,Laurent Guibaud,Miikka Vikkula,Melanie Eyries,Pierre-Jean Valette,Sophie Giraud

Journal of medical genetics（2023）

引用 0|浏览17
暂无评分
摘要
loss-of-function variants can be associated with HHT-like hepatic abnormalities and should be tested for atypical HHT presentations.
更多
查看译文
关键词
Cardiovascular Abnormalities,Liver Diseases,Phenotype
AI 理解论文
溯源树
样例
生成溯源树，研究论文发展脉络
Chat Paper
正在生成论文摘要